CPAP c.2992_3003del
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- CPAP
- Coding
- c.2992_3003del
- MANE Select
- NM_018451
- Type
- Deletion
- Structure
- AlphaFold pLDDT 56.70 · 6 PDB
Similar variants
- CPAP p.Gln169fs Pathogenic/Likely pathogenic ★★ same type
- CPAP p.Gln311fs Pathogenic ★★ same type
- CPAP p.Glu300fs Pathogenic/Likely pathogenic ★★ same type
- CPAP p.Glu344fs Pathogenic/Likely pathogenic ★★ same type
- CPAP p.Lys42fs Pathogenic ★★ same type
- CPAP p.Lys479fs Pathogenic ★★ same type
- CPAP p.Ser1081fs Pathogenic/Likely pathogenic ★★ same type
- CPAP p.Ser7fs Pathogenic ★★ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/cpap-c-2992-3003del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown